Exome sequencing and the genetic basis of complex traits
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These results comport with studies of other disorders and suggest that large sample sizes will be required to achieve good power in rare variant association studies.
“These results comport with studies of other disorders and suggest that large sample sizes will be required to achieve good power in rare variant association studies [21].”
From Integrated Model of De Novo and Inherited Genetic Variants Yields Greater Power to Identify Risk Genes (2013) · cites this paper as [21]
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References 98 · Cited by 372
- Authors
- Kiezun, A., Garimella, K., Do, R., Stitziel, N. O., Neale, B. M., McLaren, P. J., Gupta, N., Sklar, P., Sullivan, P. F., Moran, J. L., Hultman, C. M., Lichtenstein, P., Magnusson, P., Lehner, T., Shugart, Y. Y., Price, A. L., de Bakker, P. I. W., Purcell, S. M., & Sunyaev, S. R.
- Affiliations
- Broad Institute (US)
- Icahn School of Medicine at Mount Sinai (US)
- University of North Carolina at Chapel Hill (US)
- Karolinska Institutet (SE)
- National Institutes of Health (US)
- Massachusetts General Hospital (US)
- Corresponding author
- Sunyaev, Shamil R
- ORCID
- Venue
- Nature Genetics
- Published
- 2012-05-29
- Volume
- 44
- Issue
- 6
- Pages
- 623-630
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC3727622
- OpenAlex
- W2030701454
- Cited by
- 372
- References
- 98
- Citations by year
- 2026: 2 · 2025: 4 · 2024: 5 · 2023: 7 · 2022: 12 · 2021: 11 · 2020: 19 · 2019: 20 · 2018: 19 · 2017: 29 · 2016: 34 · 2015: 55 · 2014: 75 · 2013: 53 · 2012: 26
- FWCI
- 40.28
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institutes of Health (5u01ai069511-02, 5u01ai069495-05, KL2TR000446, 5u01ai069419-04, 5u01ai069465-04, 5u01ai069467-02, 2um1ai069501-15, TL1TR000447, 5u01ai069502-05, UL1TR000445)
- U.S. Public Health Service (AL-32782)
- Canadian Institutes of Health Research
- National Heart, Lung, and Blood Institute (T32-HL07604-25, T32HL007604)
- National Institute of Mental Health (RC2MH089905, R01MH089208, R01MH095034, R01MH084676)
- National Human Genome Research Institute (R01HG005827)
- National Institute of Allergy and Infectious Diseases (U01-AI069465, AI – 68634, UM1AI069474, AI069502, UM1AI069513, UM1AI069495, U01AI069474, UM1AI069532, AI 069474, AI-069511, AI 069423, AI-069415, UM1AI069556, AI-25859, U01AI069434, U01-AI-069511, AI 069432, AI-069501, U01-AI069419, AI-069428, U01 AI-069502, AI-069434, AI 46370, U01-AI-069495, AI-069495, AI 38844, AI 069556, AI-069450, AI069472, U01AI069477, AI-069532, U01AI069423, U01AI069428, U01AI027661, AI-069477, AI-27661, U01AI034835, U01AI038844, AI 069471, UM1AI069477, U01AI068636, U01AI069452, AI 069452, U01AI069424, AI069465, UM1AI069434, AI-068636, UM1-AI069501, AI-69467, U01AI025859, AI 069513, AI 069484, U01AI069471, U01AI069450, R37AI028568, U01AI069556, U01AI046370, UM1AI069415, UM1AI069502, U01AI069532, AI077505, U01-AI069467, R01AI030914, U01AI068634, U01AI069432, U01AI069501, U01AI032782, AI-34853, UM1AI069467, UM1AI069428, U01AI069472, U01AI069513, UM1AI069450, U01AI069415, UM1AI069472, AI 069424, U01AI034853, AI069419, U01AI069484, AI34835, AI 30914, R01AI028568, UM1AI069484, UM1AI069432, UM1AI069419, UM1AI068636, UM1AI069471, UM1AI068634, UM1AI069465, UM1AI069423, R01AI077505, UM1AI069424, UM1AI069511, UM1AI069452, AI 28568)
- National Center for Research Resources (RR024975, KL2RR024977, TL1RR024978, UL1RR024975)
- National Center for Advancing Translational Sciences
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Bioinformatics and Genomic Networks
- Keywords
- exome sequencing, complex traits, genetic basis of disease, human genetic variation, genetic association studies
- MeSH terms
- Genetics, Population, Humans, Quality Control, Genetic Variation, Sequence Analysis, DNA, Genetic Association Studies, Exome
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